publications

preprints / manuscripts in preparation

Sadowski, M, Dahl, AW, Zaitlen, N, Border, R. The geometry of g × e: How scaling and endogenous treatment effects shape interaction direction. 10.1101/2025.07.15.664999 Invited for resubmission at PLOS Genetics

Border, R, Wang, J, Caggiano, C, …, Benjamin, DJ, Dahl, AW, Zaitlen, N. Simple models of non-random mating and environmental transmission bias standard human genetics statistical methods. 10.1101/2024.10.16.618755 Invited for resubmission at Nature Genetics

Tan, T, Jayashankar, H, Guan, J, …, Border, R, …, Okbay, A, Benjamin, DJ, Young, AS. Family-GWAS reveals effects of environment and mating on genetic associations. 10.1101/2024.10.01.24314703 Out for review at Nature

Ercelen, D, Caggiano, C, Border, R, Sankararaman, S, Mangul, S, Zaitlen, N, Thompson, M. Identifying novel genetic and phenotypic associations to genomic features by leveraging off-target reads in exome sequencing data. 10.1101/2024.11.30.625754

peer-reviewed publications

Cai, N, Dahl, A, Border, R, …, Schork, AJ, Kendler, K, Flint, J (2026). The predicament of heritable confounders. Nature Genetics. 10.1038/s41588-025-02465-y

Jang, S, Wang, Z, Border, R, …, Ntranos, V, Flint, J, Zaitlen, N (2025). Leveraging protein language models to identify complex trait associations with previously inaccessible classes of functional rare variants. Cell Genomics. 10.1016/j.xgen.2025.101068

Fu, B, Border, R, Sankararaman, S (2025). A biobank-scale test of marginal epistasis reveals genome-wide signals of polygenic epistasis. Nature Genetics. 10.1038/s41588-025-02411-y

Krebs, K, Border, R, Schork, A (2025). The relationship between genotype- and phenotype-based estimates of genetic liability to psychiatric disorders, in practice and in theory. The American Journal of Human Genetics. 10.1016/j.ajhg.2025.11.016

Van Der Laan, CM, Ip, HF, Schipper, M, …, Border, R, …, Bartels, M, Nivard, MG, Boomsma, DI (2025). Genome-wide association meta-analysis of childhood ADHD symptoms and diagnosis identifies new loci and potential effector genes. Nature Genetics. 10.1038/s41588-025-02295-y

Fan, CC, Dehkordi, SR, Border, R, …, Zaitlen, N, Buil, A, Wang, S (2025). Spousal correlations for nine psychiatric disorders are consistent across cultures and persistent over generations. Nature Human Behaviour. 10.1038/s41562-025-02298-z

Wainschtein, P, Zhang, Y, Schwartzentruber, J, …, Border, R, …, Visscher, PM, Farh, KK, Yengo, L (2025). Estimation and mapping of the missing heritability of human phenotypes. Nature. 10.1038/s41586-025-09720-6

Wei, A, Border, R, Fu, B, …, Ntranos, V, Zaitlen, N, Arboleda, VA (2025). Investigating the sources of variable impact of pathogenic variants in monogenic metabolic conditions. Nature Communications. 10.1038/s41467-025-60339-7

Mefford, J, Smullen, M, Zhang, F, Sadowski, M, Border, R, Dahl, A, Flint, J, Zaitlen, N (2025). Beyond predictive R: Quantile regression and non-equivalence tests reveal complex relationships of traits and polygenic scores. American Journal of Human Genetics. 10.1016/j.ajhg.2025.04.013

Sadowski, M, Thompson, M, Mefford, J, …, Border, R, …, Sankararaman, S, Dahl, A, Zaitlen, N (2024). Characterizing the genetic architecture of drug response using gene-context interaction methods. Cell Genomics. 10.1016/j.xgen.2024.100722

Ma, S, Wang, F, Border, R, Buxbaum, J, Zaitlen, N, Ionita-Laza, I (2024). Local genetic correlation via knockoffs reduces confounding due to cross-trait assortative mating. The American Journal of Human Genetics. 10.1016/j.ajhg.2024.10.012

Dybdahl Krebs, M, Georgii Hellberg, K, Lundberg, M, …, Border, R, …, Werge, T, Kendler, KS, Schork, AJ (2024). Genetic liability estimated from large-scale family data improves genetic prediction, risk score profiling, and gene mapping for major depression. The American Journal of Human Genetics. 10.1016/j.ajhg.2024.09.009

Romero Villela, PN, Evans, LM, Palviainen, T, Border, R, Kaprio, J, Palmer, RH, Keller, MC, Ehringer, MA (2024). Loci on chromosome 20 interact with rs16969968 to influence cigarettes per day in european ancestry individuals. Drug and Alcohol Dependence. 10.1016/j.drugalcdep.2024.111126

Dahl, A, Thompson, M, An, U, …, Border, R, …, Sankararaman, S, Kendler, KS, Cai, N (2023). Phenotype integration improves power and preserves specificity in biobank-based genetic studies of major depressive disorder. Nature Genetics. 10.1038/s41588-023-01559-9

Border, R & Malik, OA (2023). Rbahadur}: Efficient simulation of structured high-dimensional genotype data with applications to assortative mating. BMC Bioinformatics. 10.1186/s12859-023-05442-6

Border, R, Athanasiadis, G, Buil, A, …, Sankararaman, S, Dahl, AW, Zaitlen, NA (2022). Cross-trait assortative mating is widespread and inflates genetic correlation estimates. Science. 10.1126/science.abo2059

Jami, ES, Hammerschlag, AR, Ip, HF, …, Border, R, …, Nivard, MG, Bartels, M, Middeldorp, CM (2022). Genome-wide association meta-analysis of childhood and adolescent internalising symptoms. Journal of the American Academy of Child and Adolescent Psychiatry. 10.1016/j.jaac.2021.11.035

Border, R, O’Rourke, S, De Candia, T, Goddard, ME, Visscher, PM, Yengo, L, Jones, M, Keller, MC (2022). Assortative mating biases marker-based heritability estimators. Nature Communications. 10.1038/s41467-022-28294-9

Ip, HF, Van Der Laan, CM, Krapohl, EML, …, Border, R, …, Bartels, M, Nivard, MG, Boomsma, DI (2021). Genetic association study of childhood aggression across raters, instruments, and age. Translational Psychiatry. 10.1038/s41398-021-01480-x

Adjangba, C, Border, R, Romero Villela, PN, Ehringer, MA, Evans, LM (2021). Little evidence of modified genetic effect of rs16969968 on heavy smoking based on age of onset of smoking. Nicotine and Tobacco Research. 10.1093/ntr/ntaa229

Border, R & Becker, S (2019). Stochastic Lanczos estimation of genomic variance components for linear mixed-effects models. BMC Bioinformatics. 10.1186/s12859-019-2978-z

Border, R, Johnson, EC, Evans, LM, Smolen, A, Berley, N, Sullivan, PF, Keller, MC (2019). No support for historical candidate gene or candidate gene-by-interaction hypotheses for major depression across multiple large samples. American Journal of Psychiatry. 10.1176/appi.ajp.2018.18070881

Border, R, Johnson, EC, Evans, LM, Keller, MC (2019). Measurement error cannot account for failed replications of historic candidate gene-by-environment hypotheses: Response to Vrshek-Schallhorn et al.. American Journal of Psychiatry. 10.1176/appi.ajp.2019.19040374r

Border, R, Smolen, A, Corley, RP, …, Wall, TL, Keller, MC, Evans, LM (2019). Imputation of behavioral candidate gene repeat variants in 486,551 publicly-available UK Biobank individuals. European Journal of Human Genetics. 10.1038/s41431-019-0349-x

Border, R, Corley, RP, Brown, SA, …, Wall, TL, Woodward, KE, Rhee, SH (2018). Independent predictors of mortality in adolescents ascertained for conduct disorder and substance use problems, their siblings and community controls. Addiction. 10.1111/add.14366

Border, R, Corley, RP, Brown, SA, …, Wall, TL, Young, SE, Rhee, SH (2018). Predictors of adult outcomes in clinically- and legally-ascertained youth with externalizing problems. PLOS ONE. 10.1371/journal.pone.0206442

Johnson, EC, Border, R, Melroy-Greif, WE, De Leeuw, CA, Ehringer, MA, Keller, MC (2017). No evidence that schizophrenia candidate genes are more associated with schizophrenia than noncandidate genes. Biological Psychiatry. 10.1016/j.biopsych.2017.06.033

Border, R & Keller, MC (2017). Commentary: Fundamental problems with candidate gene-by-environment interaction studies. Journal of Child Psychology and Psychiatry. 10.1111/jcpp.12669